Incidental Mutation 'R8801:Loxl3'
| ID |
671490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Loxl3
|
| Ensembl Gene |
ENSMUSG00000000693 |
| Gene Name |
lysyl oxidase-like 3 |
| Synonyms |
Lor2 |
| MMRRC Submission |
068611-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.942)
|
| Stock # |
R8801 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83011186-83029547 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 83025629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 329
(W329L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000707]
[ENSMUST00000089645]
[ENSMUST00000101257]
[ENSMUST00000113962]
[ENSMUST00000113963]
[ENSMUST00000122955]
[ENSMUST00000134606]
|
| AlphaFold |
Q9Z175 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000707
AA Change: W329L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000707
Gene: ENSMUSG00000000693
AA Change: W329L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
SR
|
45 |
146 |
2.1e-50 |
SMART |
|
SR
|
170 |
283 |
1.09e-25 |
SMART |
|
SR
|
308 |
408 |
3.72e-51 |
SMART |
|
SR
|
418 |
526 |
8.5e-37 |
SMART |
|
Pfam:Lysyl_oxidase
|
530 |
730 |
3.9e-103 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089645
|
| SMART Domains |
Protein: ENSMUSP00000087073
Gene: ENSMUSG00000068329
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
106 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
143 |
N/A |
INTRINSIC |
|
Pfam:Trypsin
|
170 |
341 |
1.1e-14 |
PFAM |
|
Pfam:Trypsin_2
|
182 |
320 |
1.2e-34 |
PFAM |
|
PDZ
|
371 |
445 |
2.86e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101257
AA Change: W329L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098815
Gene: ENSMUSG00000000693
AA Change: W329L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
SR
|
45 |
146 |
2.1e-50 |
SMART |
|
SR
|
170 |
283 |
1.09e-25 |
SMART |
|
SR
|
308 |
396 |
5.46e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113962
|
| SMART Domains |
Protein: ENSMUSP00000109595
Gene: ENSMUSG00000068329
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
106 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
143 |
N/A |
INTRINSIC |
|
Pfam:Trypsin_2
|
182 |
237 |
2.7e-12 |
PFAM |
|
Pfam:Trypsin
|
212 |
277 |
4.5e-6 |
PFAM |
|
PDZ
|
285 |
348 |
4.89e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113963
|
| SMART Domains |
Protein: ENSMUSP00000109596
Gene: ENSMUSG00000068329
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
106 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
143 |
N/A |
INTRINSIC |
|
Pfam:Trypsin
|
170 |
342 |
6.8e-15 |
PFAM |
|
Pfam:Trypsin_2
|
182 |
320 |
7.1e-24 |
PFAM |
|
PDZ
|
350 |
413 |
4.89e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122955
|
| SMART Domains |
Protein: ENSMUSP00000138153
Gene: ENSMUSG00000068329
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
106 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
143 |
N/A |
INTRINSIC |
|
Pfam:Trypsin
|
170 |
321 |
2.1e-10 |
PFAM |
|
Pfam:Trypsin_2
|
182 |
317 |
9.5e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132099
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134606
|
| SMART Domains |
Protein: ENSMUSP00000115547
Gene: ENSMUSG00000068329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trypsin
|
7 |
180 |
2.7e-15 |
PFAM |
|
Pfam:Trypsin_2
|
20 |
158 |
3.1e-24 |
PFAM |
|
PDZ
|
209 |
283 |
2.86e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150217
|
| SMART Domains |
Protein: ENSMUSP00000118234
Gene: ENSMUSG00000068329
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
11 |
N/A |
INTRINSIC |
|
Pfam:Trypsin
|
41 |
215 |
1.6e-11 |
PFAM |
|
Pfam:Trypsin_2
|
53 |
190 |
1.8e-31 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality shortly after birth, craniofacial and vertebral abnormalities associated with collagen deformities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
G |
A |
6: 92,808,972 (GRCm39) |
V100I |
unknown |
Het |
| Acta2 |
G |
T |
19: 34,229,207 (GRCm39) |
Q61K |
probably damaging |
Het |
| Adamts20 |
T |
G |
15: 94,258,490 (GRCm39) |
D357A |
probably damaging |
Het |
| Adcy4 |
A |
G |
14: 56,009,452 (GRCm39) |
F798S |
probably benign |
Het |
| Aldh16a1 |
A |
G |
7: 44,791,438 (GRCm39) |
V779A |
probably benign |
Het |
| Arid1b |
C |
A |
17: 5,387,103 (GRCm39) |
P1466T |
probably benign |
Het |
| B3gnt2 |
T |
C |
11: 22,787,002 (GRCm39) |
E62G |
probably damaging |
Het |
| Bcan |
A |
C |
3: 87,904,582 (GRCm39) |
V58G |
probably damaging |
Het |
| Bhlhe41 |
T |
C |
6: 145,810,339 (GRCm39) |
Q66R |
probably damaging |
Het |
| Cdh6 |
G |
A |
15: 13,044,847 (GRCm39) |
T425I |
probably damaging |
Het |
| Ciao2b |
C |
T |
8: 105,367,599 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
A |
G |
4: 128,457,195 (GRCm39) |
Y3554C |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 48,321,024 (GRCm39) |
H262L |
possibly damaging |
Het |
| Dgcr8 |
A |
G |
16: 18,098,500 (GRCm39) |
F334S |
probably damaging |
Het |
| Dipk1c |
T |
C |
18: 84,757,617 (GRCm39) |
S234P |
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,410,022 (GRCm39) |
T497A |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,381,502 (GRCm39) |
V2749A |
possibly damaging |
Het |
| Esr1 |
A |
G |
10: 4,916,270 (GRCm39) |
N486D |
unknown |
Het |
| Fbn2 |
T |
C |
18: 58,287,021 (GRCm39) |
T213A |
probably damaging |
Het |
| Fbxo41 |
T |
A |
6: 85,461,663 (GRCm39) |
E15V |
probably damaging |
Het |
| Fga |
G |
A |
3: 82,938,188 (GRCm39) |
A188T |
possibly damaging |
Het |
| Frk |
C |
T |
10: 34,423,402 (GRCm39) |
S160F |
possibly damaging |
Het |
| Gm4559 |
CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT |
CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT |
7: 141,827,553 (GRCm39) |
|
probably benign |
Het |
| Gss |
T |
C |
2: 155,406,686 (GRCm39) |
Y432C |
probably damaging |
Het |
| Ifi27l2b |
A |
T |
12: 103,423,298 (GRCm39) |
F5I |
unknown |
Het |
| Insm1 |
T |
A |
2: 146,065,346 (GRCm39) |
Y387* |
probably null |
Het |
| Klf12 |
T |
G |
14: 100,260,172 (GRCm39) |
I186L |
probably benign |
Het |
| Klrg1 |
C |
T |
6: 122,248,342 (GRCm39) |
V186I |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,835,595 (GRCm39) |
V1759E |
probably benign |
Het |
| Mlph |
G |
A |
1: 90,870,609 (GRCm39) |
V507I |
probably benign |
Het |
| Mroh8 |
G |
A |
2: 157,075,086 (GRCm39) |
T470M |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,888,373 (GRCm39) |
Y175H |
possibly damaging |
Het |
| Nedd4l |
A |
G |
18: 65,288,346 (GRCm39) |
E2G |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 91,009,393 (GRCm39) |
|
probably benign |
Het |
| Optc |
A |
G |
1: 133,832,819 (GRCm39) |
S94P |
possibly damaging |
Het |
| Or8k33 |
A |
G |
2: 86,383,727 (GRCm39) |
V247A |
probably benign |
Het |
| Oxtr |
T |
A |
6: 112,466,873 (GRCm39) |
|
probably benign |
Het |
| Phip |
T |
C |
9: 82,758,305 (GRCm39) |
R1463G |
probably benign |
Het |
| Pramel30 |
A |
G |
4: 144,059,438 (GRCm39) |
Y383C |
probably benign |
Het |
| Psmc3ip |
T |
C |
11: 100,984,617 (GRCm39) |
N76S |
probably benign |
Het |
| Reln |
T |
A |
5: 22,155,854 (GRCm39) |
M2213L |
possibly damaging |
Het |
| Rock1 |
T |
C |
18: 10,070,260 (GRCm39) |
D1271G |
probably damaging |
Het |
| Rprd1a |
T |
G |
18: 24,641,280 (GRCm39) |
E112A |
probably benign |
Het |
| Sacm1l |
A |
T |
9: 123,411,384 (GRCm39) |
D391V |
probably damaging |
Het |
| Serpina3f |
A |
T |
12: 104,185,737 (GRCm39) |
H314L |
probably benign |
Het |
| Setd5 |
T |
A |
6: 113,127,853 (GRCm39) |
S1269T |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,308,335 (GRCm39) |
E740G |
probably damaging |
Het |
| Tcaf1 |
T |
A |
6: 42,663,742 (GRCm39) |
Q46L |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,173,618 (GRCm39) |
A21T |
probably benign |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Ttll11 |
A |
T |
2: 35,792,985 (GRCm39) |
L286H |
probably damaging |
Het |
| Usp1 |
A |
G |
4: 98,822,848 (GRCm39) |
T721A |
probably benign |
Het |
| Vps41 |
T |
C |
13: 18,998,403 (GRCm39) |
S241P |
possibly damaging |
Het |
|
| Other mutations in Loxl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00957:Loxl3
|
APN |
6 |
83,025,747 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01370:Loxl3
|
APN |
6 |
83,026,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02126:Loxl3
|
APN |
6 |
83,025,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02128:Loxl3
|
APN |
6 |
83,027,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Loxl3
|
UTSW |
6 |
83,027,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Loxl3
|
UTSW |
6 |
83,027,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1725:Loxl3
|
UTSW |
6 |
83,012,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1771:Loxl3
|
UTSW |
6 |
83,026,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Loxl3
|
UTSW |
6 |
83,025,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2291:Loxl3
|
UTSW |
6 |
83,014,469 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3731:Loxl3
|
UTSW |
6 |
83,027,652 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4179:Loxl3
|
UTSW |
6 |
83,014,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5230:Loxl3
|
UTSW |
6 |
83,012,775 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5385:Loxl3
|
UTSW |
6 |
83,027,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5591:Loxl3
|
UTSW |
6 |
83,025,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5664:Loxl3
|
UTSW |
6 |
83,026,863 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5769:Loxl3
|
UTSW |
6 |
83,027,581 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5771:Loxl3
|
UTSW |
6 |
83,012,780 (GRCm39) |
splice site |
probably null |
|
|
R5802:Loxl3
|
UTSW |
6 |
83,026,270 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5831:Loxl3
|
UTSW |
6 |
83,025,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5945:Loxl3
|
UTSW |
6 |
83,014,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6542:Loxl3
|
UTSW |
6 |
83,025,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6687:Loxl3
|
UTSW |
6 |
83,027,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7961:Loxl3
|
UTSW |
6 |
83,027,790 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8009:Loxl3
|
UTSW |
6 |
83,027,790 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8122:Loxl3
|
UTSW |
6 |
83,026,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8278:Loxl3
|
UTSW |
6 |
83,025,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8373:Loxl3
|
UTSW |
6 |
83,025,872 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8411:Loxl3
|
UTSW |
6 |
83,027,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8539:Loxl3
|
UTSW |
6 |
83,026,507 (GRCm39) |
missense |
probably benign |
|
|
R8684:Loxl3
|
UTSW |
6 |
83,012,566 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8782:Loxl3
|
UTSW |
6 |
83,025,051 (GRCm39) |
missense |
probably benign |
|
|
R8859:Loxl3
|
UTSW |
6 |
83,014,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8864:Loxl3
|
UTSW |
6 |
83,012,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9031:Loxl3
|
UTSW |
6 |
83,012,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9081:Loxl3
|
UTSW |
6 |
83,025,638 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9176:Loxl3
|
UTSW |
6 |
83,026,292 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9369:Loxl3
|
UTSW |
6 |
83,027,393 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9634:Loxl3
|
UTSW |
6 |
83,027,835 (GRCm39) |
missense |
probably benign |
0.10 |
|
V1024:Loxl3
|
UTSW |
6 |
83,012,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0009:Loxl3
|
UTSW |
6 |
83,015,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Loxl3
|
UTSW |
6 |
83,025,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Loxl3
|
UTSW |
6 |
83,015,559 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATAGATCTGATGCCACCC -3'
(R):5'- GTTGGAACTAGACCATTGCCC -3'
Sequencing Primer
(F):5'- TAGATCTGATGCCACCCACTATC -3'
(R):5'- GAACTAGACCATTGCCCAGAGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation